Variant report

Variant	rs12590197
Chromosome Location	chr14:35827057-35827058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35761260..35763944-chr14:35824560..35827555,2	MCF-7	breast:
2	chr14:35821416..35824471-chr14:35826109..35828501,4	K562	blood:
3	chr14:35825704..35827505-chr14:35837776..35839385,2	MCF-7	breast:
4	chr14:35825567..35827487-chr14:35834461..35837123,2	MCF-7	breast:
5	chr14:35821200..35823074-chr14:35824484..35827644,3	MCF-7	breast:
6	chr14:35826145..35827656-chr14:35829547..35831516,2	MCF-7	breast:
7	chr14:35826366..35828921-chr14:35832422..35834192,2	MCF-7	breast:
8	chr14:35821416..35823849-chr14:35826359..35828501,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258860	Chromatin interaction
ENSG00000100902	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12590010	0.80[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12590024	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58972402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
3	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
4	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv528501	chr14:35825436-35840678	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
2	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:35822200-35831600	Weak transcription	Colonic Mucosa	Colon
4	chr14:35822400-35827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:35822400-35832000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:35822400-35832200	Weak transcription	Right Atrium	heart
7	chr14:35822400-35834400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:35822400-35834600	Weak transcription	Gastric	stomach
9	chr14:35822600-35831600	Weak transcription	Adipose Nuclei	Adipose
10	chr14:35822600-35836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:35822800-35831600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:35823000-35831600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:35823400-35834200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:35823600-35831600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35825600-35831600	Weak transcription	Pancreas	Pancrea
16	chr14:35825600-35834200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:35825600-35834200	Weak transcription	Fetal Thymus	thymus
18	chr14:35825600-35834400	Weak transcription	Left Ventricle	heart
19	chr14:35825600-35835200	Weak transcription	Aorta	Aorta
20	chr14:35825800-35829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:35825800-35831600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:35825800-35833400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:35825800-35834200	Weak transcription	HMEC	breast
24	chr14:35826000-35829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:35826000-35829800	Weak transcription	NHEK	skin
26	chr14:35826000-35831600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:35826000-35834400	Weak transcription	Fetal Kidney	kidney
28	chr14:35826000-35834400	Weak transcription	Thymus	Thymus
29	chr14:35826200-35827200	Weak transcription	K562	blood
30	chr14:35826200-35827400	Enhancers	Hela-S3	cervix
31	chr14:35826200-35827400	Enhancers	HepG2	liver
32	chr14:35826200-35829600	Weak transcription	GM12878-XiMat	blood
33	chr14:35826200-35830000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:35826200-35831600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:35826200-35831600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr14:35826200-35831600	Weak transcription	Fetal Lung	lung
37	chr14:35826200-35831600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:35826200-35831600	Weak transcription	A549	lung
39	chr14:35826200-35831600	Weak transcription	HSMMtube	muscle
40	chr14:35826200-35831600	Weak transcription	Osteobl	bone
41	chr14:35826200-35831800	Weak transcription	Liver	Liver
42	chr14:35826200-35834400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:35826200-35834400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:35826600-35828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:35826600-35829000	Weak transcription	Placenta	Placenta
46	chr14:35826600-35831800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:35826600-35833400	Weak transcription	Fetal Intestine Small	intestine

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